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Doctor insights on: Cystic Fibrosis Two Exon

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Dr. William Walsh
981 doctors shared insights

Cystic Fibrosis (Definition)

Cystic fibrosis is a genetic disorder of the lungs and digestive tract. It causes recurrent lung infections and inhibits growth in patients. Average life expectancy of patients with cystic fibrosis ...Read more


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What is cystic fibrosis exactly?

Inherited disease: Cystic fibrosis (CF) is an inherited disease that affects the cells lining the lungs, sinuses, intestines, spleen and liver. It prevents chloride ions from crossing the cell membranes properly. This can clog organ ducts. In the lungs, the extra mucus crushes the cilia and leads to more lung infections. Medications can help; in late-stage disease, lung transplantation may be life-saving. ...Read more

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I was diagnosed with croup and later with laryngitis. I think i also have cystic fibrosis. How can I tell the difference between the two?

Doubtful: If you suspect you have cystic fibrosis and your doctor thinks further testing is warranted they should be able to order specific testing to rule it out. That being said, croup and laryngitis are not typical presentations of cystic fibrosis. CF symptoms usually present much earlier than age 20 yrs. ...Read more

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Is good to work outside while having cystic fibrosis?

Is good to work outside while having cystic fibrosis?

CF and environment: Depending on the severity of your cf, leading an active healthy lifestyle outside is not a fantasy. Common sense will dictate avoidance germs by simple hand hygiene (wash, wipe, alcohol base hand gels). Knowing your CF treatment plan as per your pulmonologist/specialist is important for slowing down the progression/maintaining a more resilient defense against bacterial/chronic lung infection. ...Read more

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How to tell if I have cystic fibrosis? Is it deadly?

Testing; can be: Cystic fibrosis (CF) can be diagnosed with appropriate examination by a doctor and a sweat chloride testing. No single symptom is unique to that disease. CF can be deadly, at any age, young or old. Severity varies greatly, and lung (respiratory) failure is the most common cause of death from cf. ...Read more

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What does it mean if I am a carrier cystic fibrosis?

What does it mean if I am a carrier cystic fibrosis?

One gene bad: The cftr gene codes for (has information for your body about) a sodium-chloride transporter on your cell membranes. If you have two bad copies you have cf, if you have one, you are a carrier. As many as 1 in 25 caucasian adults in the us has this mutation. If you are planning on having children, talk to your spouse about genetic counseling, unless your spouse is of asian or african descent. ...Read more

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My 2 year old son had a throat culture that came back with a high reading of pseudomonas, is this a sign of cystic fibrosis?

My 2 year old son had a throat culture that came back with a high reading of pseudomonas, is this a sign of cystic fibrosis?

Need to rule CF out: I would have the culture repeated. Unfortunately, studies have shown 49% of 2 year olds had positive throat cultures for pseudomonas aeruginosa. Sweat testing and genetic testing should be performed. Check to see if newborn blood screen tested for cystic fibrosis (cf). ...Read more

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With cystic fibrosis, is everyday bad and what do they experience on a normal day?

No: Not every day is bad with cystic fibrosis! the severity of the disease varies from patient to patient. Some patient may not feel they have anything wrong with them. Others may experience breathing difficulties or other symptoms, for example abdominal discomfort. Patients with CF often are required to take numerous medications a day and receive numerous breathing treatments as well. ...Read more

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